Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Background And Aims: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date.

Patients And Methods: A total of 36 unrelated Chinese patients with diagnostic suspicion of dysferlinopathy were clinically and genetically characterized.

Cost-effectiveness of screening for hepatitis C in Canada.

Background: The seroprevalence of hepatitis C virus (HCV) infection among Canadians is estimated at 0.3% to 0.9%.

Economic evaluation of the prophylaxis for thromboembolism in critical care trial (E-PROTECT): study protocol for a randomized controlled trial.

Background: Venous thromboembolism (VTE) is a common complication of critical illness with important clinical consequences. The Prophylaxis for ThromboEmbolism in Critical Care Trial (PROTECT) is a multicenter, blinded, randomized controlled trial comparing the effectiveness of the two most common pharmocoprevention strategies, unfractionated heparin (UFH) and low molecular weight heparin (LMWH) dalteparin, in medical-surgical patients in the intensive care unit (ICU). E-PROTECT is a prospective and concurrent economic evaluation of the PROTECT trial.

Structure and characteristics of community-based multidisciplinary wound care teams in Ontario: an environmental scan.

Multidisciplinary team approach is an essential component of evidence-based wound management in the community. The objective of this study was to identify and describe community-based multidisciplinary wound care teams in Ontario. For the study, a working definition of a multidisciplinary wound care team was developed, and a two-phase field evaluation was conducted.

Identification of splicing defects caused by mutations in the dysferlin gene.

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to predict the impact on splicing; however, no diagnosis result could rely on predictions alone, but requires functional testing. Here, we report an in vitro approach to study the impact of DYSF mutations on splicing.

Identifying future research priorities using value of information analyses: left atrial appendage occlusion devices in atrial fibrillation.

Background: Left atrial appendage occlusion devices are cost effective for stroke prophylaxis in atrial fibrillation when compared with dabigatran or warfarin. We illustrate the use of value-of-information analyses to quantify the degree and consequences of decisional uncertainty and to identify future research priorities.

Methods And Results: A microsimulation decision-analytic model compared left atrial appendage occlusion devices to dabigatran or warfarin in atrial fibrillation.

Economic evaluation of meningococcal serogroup B childhood vaccination in Ontario, Canada.

Objective: Invasive Neisseria meningitidis serogroup B (MenB) disease is a low incidence but severe infection (mean annual incidence 0.19/100,000/year, case fatality 11%, major long-term sequelae 10%) in Ontario, Canada. This study assesses the cost-effectiveness of a novel MenB vaccine from the Ontario healthcare payer perspective.

Real world costs and cost-effectiveness of Rituximab for diffuse large B-cell lymphoma patients: a population-based analysis.

Background: Current treatment of diffuse-large-B-cell lymphoma (DLBCL) includes rituximab, an expensive drug, combined with cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) chemotherapy. Economic models have predicted rituximab plus CHOP (RCHOP) to be a cost-effective alternative to CHOP alone as first-line treatment of DLBCL, but it remains unclear what its real-world costs and cost-effectiveness are in routine clinical practice.

Methods: We performed a population-based retrospective cohort study from 1997 to 2007, using linked administrative databases in Ontario, Canada, to evaluate the costs and cost-effectiveness of RCHOP compared to CHOP alone.

Trends in use and cost of initial cancer treatment in Ontario: a population-based descriptive study.

Background: Cancer incidence and treatment-related costs are rising in Canada. We estimated health care use and costs in the first year after diagnosis for patients with 7 common types of cancer in Ontario to examine temporal trends in patterns of care and costs.

Methods: We selected patients aged 19-44 years who had received a diagnosis of melanoma, breast cancer (female only), testicular cancer or thyroid cancer, in addition to patients aged 45 years and older who had received a diagnosis of breast (female only), prostate, lung or colorectal cancer, between 1997 and 2007.

Early economic evaluation of emerging health technologies: protocol of a systematic review.

Background: The concept of early health technology assessment, discussed well over a decade, has now been collaboratively implemented by industry, government, and academia to select and expedite the development of emerging technologies that may address the needs of patients and health systems. Early economic evaluation is essential to assess the value of emerging technologies, but empirical data to inform the current practice of early evaluation is limited. We propose a systematic review of early economic evaluation studies in order to better understand the current practice.

Health care costs for prostate cancer patients receiving androgen deprivation therapy: treatment and adverse events.

Background: Serious adverse events have been associated with androgen deprivation therapy (adt) for prostate cancer (pca), but few studies address the costs of those events.

Methods: All pca patients (ICD-9-CM 185) in Ontario who started 90 days or more of adt or had orchiectomy at the age of 66 or older during 1995-2005 (n = 26,809) were identified using the Ontario Cancer Registry and drug and hospital data. Diagnosis dates of adverse events-myocardial infarction, acute coronary syndrome, congestive heart failure, stroke, deep vein thrombosis or pulmonary embolism, any diabetes, and fracture or osteoporosis-before and after adt initiation were determined from administrative data.

Clinical decision making for a tooth with apical periodontitis: the patients' preferred level of participation.

Introduction: To effectively engage patients in clinical decisions regarding the management of teeth with apical periodontitis (AP), there is a need to explore patients' perspectives on the decision-making process. This study surveyed patients for their preferred level of participation in making treatment decisions for a tooth with AP.

Methods: Data were collected through a mail-out survey of 800 University of Toronto Faculty of Dentistry patients, complemented by a convenience sample of 200 patients from 10 community practices.

Adaptation and validation of the Spanish version of the Patient-Oriented Prostate Utility Scale (PORPUS).

Objective: The Patient-Oriented Prostate Utility Scale (PORPUS) is a combined profile and utility-based quality of life measure for prostate cancer patients. Our objectives were to adapt the PORPUS into Spanish and to assess its acceptability, reliability, and validity.

Methods: The PORPUS was adapted into Spanish using forward and back translations and cognitive debriefing.

Conceptualizing global health-related quality of life in bladder cancer.

Purpose: Patients' values for health outcomes are central to treatment decisions in bladder cancer (BCa). An instrument incorporating the expressed preferences of BCa patients, as measured by utility, can inform clinical guidelines, resource allocation and policy decisions. Developing this instrument requires a formal conceptual framework summarizing the important domains comprising global health-related quality of life (HRQOL) in BCa.

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and posterior compartment involvement on MRI. Different genetic analyses were performed, including microarray analysis.

Patients' preferences and trade-offs for the treatment of early stage hepatocellular carcinoma.

Background: Radio frequency ablation (RFA) and hepatic resection (HR) provide similar survival for early stage hepatocellular carcinoma (ES-HCC). Although RFA has a higher recurrence rate, HR is associated with an increased risk of complications and death. When multiple treatments are available, patients should be enabled to direct their preferred therapy.

Health-related quality of life following radical prostatectomy: long-term outcomes.

Purpose: To identify the health-related quality of life (HRQoL) domains that radical prostatectomy (RP) impacts most negatively and to define the recovery of these domains over 30 months of observation.

Patients And Methods: A total of 1,200 RP patients completed the Patient-Oriented Prostate Utility Scale-Psychometric (PORPUS-P; range 0-100, higher is better), a prostate cancer-specific HRQoL measure, prior to RP and at 0-3 (T1), 3-9 (T2), 9-18 (T3) and 18-30 (T4) months post-RP. HRQoL changes were examined using paired t tests and a mixed-effect growth curve model.